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Clin Genet. 2016 Jan;89(1):5-9. doi: 10.1111/cge.12673. Epub 2015 Sep 29.

Gastrointestinal involvement in Fabry disease. So important, yet often neglected.

Author information

1
Department of Neurology, Fundación para el Estudio de las Enfermedades Neurometabólicas (FESEN), Buenos Aires, Argentina.
2
Department of Pathology, Genzyme Corporation, Framingham, MA, USA.
3
Department of Medicine, University of Alabama, Birmingham, AL, USA.
4
Department of Genetics, LABGEN, Buenos Aires, Argentina.

Abstract

Fabry disease is an X-linked metabolic storage disorder due to the deficiency of lysosomal alpha-galactosidase A which causes accumulation of glycosphingolipids, primarily globotriaosylceramide, throughout the body. Gastrointestinal signs and symptoms-abdominal pain, nausea, diarrhea and diverticular disease--are some of the most frequently reported complaints in patients with Fabry disease but are often neglected. Gastrointestinal symptoms are due to intestinal dysmotility as well as impaired autonomic function, vasculopathy and myopathy. Since 2001, enzyme replacement therapy has been a mainstay in treatment of gastrointestinal symptoms of Fabry disease (FD), resulting in reduced gastrointestinal symptoms. Here, we report on four patients with Fabry disease (FD) who manifested early gastrointestinal involvement.

KEYWORDS:

Fabry disease; enzyme replacement therapy; α-galactosidase A

PMID:
26333625
DOI:
10.1111/cge.12673
[Indexed for MEDLINE]

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